abnormality of the ulna Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the ulna bone of the forearm. (Human Phenotype Ontology, HP_0002997)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002997
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Genes

103 genes associated with the abnormality of the ulna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AGA aspartylglucosaminidase
B2M beta-2-microglobulin
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CCDC8 coiled-coil domain containing 8
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
CUL7 cullin 7
DHODH dihydroorotate dehydrogenase (quinone)
DLX3 distal-less homeobox 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ELN elastin
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HOXA11 homeobox A11
HOXD13 homeobox D13
IHH indian hedgehog
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
NIPBL Nipped-B homolog (Drosophila)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RPL26 ribosomal protein L26
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOX short stature homeobox
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TBX3 T-box 3
TBX5 T-box 5
TGFB1 transforming growth factor, beta 1
TWIST1 twist family bHLH transcription factor 1
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16